Canonical Allele Identifier: CA114719731

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs554050931
• gnomAD v2: 5-14716506-C-CAGG
• gnomAD v3: 5-14716397-C-CAGG
• gnomAD v4: 5-14716397-C-CAGG
• MyVariant Identifiers: chr5:g.14716509_14716510insAGG (hg19) ; chr5:g.14716506_14716507insAGG (hg19) ; chr5:g.14716400_14716401insAGG (hg38) ; chr5:g.14716397_14716398insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716400_14716402dup , CM000667.2:g.14716400_14716402dup	GRCh38
NC_000005.9:g.14716509_14716511dup , CM000667.1:g.14716509_14716511dup	GRCh37
NC_000005.8:g.14769509_14769511dup	NCBI36
NG_008273.1:g.160379_160381dup
NG_008273.2:g.160386_160388dup
NG_051625.1:g.60607_60609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+306_1141+308dup (ANKH) MANE Select	ENSP00000284268.6:n.1141+306_1141+308dup
ENST00000284268.6:c.1141+306_1141+308dup (ANKH)	ENSP00000284268.6:n.1141+306_1141+308dup
ENST00000502585.1:n.383+306_383+308dup (ANKH)
NM_054027.4:c.1141+306_1141+308dup (ANKH)	NP_473368.1:n.1141+306_1141+308dup
NR_046285.1:n.2492-22_2492-20dup
NM_054027.5:c.1141+306_1141+308dup (ANKH)	NP_473368.1:n.1141+306_1141+308dup
XM_011514151.2:c.*3725_*3727dup (OTULIN)	XP_011512453.1:n.*3725_*3727dup
XM_017009644.2:c.1057+306_1057+308dup (ANKH)	XP_016865133.1:n.1057+306_1057+308dup
NM_054027.6:c.1141+306_1141+308dup (ANKH) MANE Select	NP_473368.1:n.1141+306_1141+308dup